Puneet Varma (Editor)

Monilethrix

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Specialty
  
medical genetics

ICD-9-CM
  
757.4

DiseasesDB
  
29592

ICD-10
  
Q84.1 (ILDS Q84.140)

OMIM
  
158000

eMedicine
  
derm/763

Monilethrix

Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).

Contents

Characteristics

The presentation may be of alopecia (baldness). Individuals vary in severity of symptoms. Nail deformities may also be present as well as hair follicle keratosis and follicular hyperkeratosis.

Cause and Genetics

Monilethrix is caused by mutations affecting the genes KRTHB1 (KRT81), KRTHB3 (KRT83), or KRTHB6 (KRT86) which code for type II hair cortex keratins. The disorder is inherited in an autosomal dominant manner. This means that the defective gene(s) responsible for the disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Diagnosis

Monilethrix may be diagnosed with trichoscopy

References

Monilethrix Wikipedia


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